For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 8; NC_000008.10 (118811602..119124058, complement). Location: 8q24.11

E Coli

> 95%

Supplied as lyophilized form in PBS,pH7.4, containing 5% sucrose, 0.01% sarcosyl.

Avoid repeated freeze/thaw cycles. Store at 2-8 degree C for one month. Aliquot and store at -80 degree C for 12 months.
Stability Test: The thermal stability is described by the loss rate of the targetprotein. The loss rate was determined by accelerated thermal degradation test,that is, incubate the protein at 37 degree C for 48h, and no obvious degradation andprecipitation were observed. (Referring from China Biological Products Standard,which was calculated by the Arrhenius equation.) The loss of this protein is lessthan 5% within the expiration date under appropriate storage condition.

Manufactured in an ISO 9001:2008 and ISO 13485:2003 Certified Laboratory.

Manufactured in a lab with traceable raw materials. Bulk orders can typically be prepared to the customera??s specifications, please inquire.

Small volumes of EXT1 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

About the Marker: Effective Size Range: 10kDa to 70kDa.
Protein bands: 10kDa, 14kDa, 18kDa, 22kDa, 26kDa, 33kDa, 44kDa and70kDa.
Double intensity bands: The 26kDa, 18kDa, 10kDa bands are at doubleintensity to make location and size approximation of proteins of interestquick and easy.
Ready-to-use: No need to heat, dilute or add reducing agents before use.

SDS-PAGE, Western Blot (WB), ELISA (EIA), Immunoprecipitation (IP)

25.9kDa

exostosin glycosyltransferase 1

exostosin-1; exostosin 1; exostoses (multiple) 1; multiple exostoses protein 1; putative tumor suppressor protein EXT1; Langer-Giedion syndrome chromosome region; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase

Exostosin-1

EXT1_HUMAN

This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]

EXT1: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Defects in EXT1 are a cause of hereditary multiple exostoses type 1 (EXT1). EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. Defects in EXT1 are a cause of tricho-rhino-phalangeal syndrome type 2 (TRPS2). A syndrome that combines the clinical features of trichorhinophalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients. Defects in EXT1 are a cause of chondrosarcoma (CHDSA). It is a malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Belongs to the glycosyltransferase 47 family.

Protein type: Membrane protein, integral; EC 2.4.1.224; Motility/polarity/chemotaxis; Tumor suppressor; Glycan Metabolism - heparan sulfate biosynthesis; EC 2.4.1.225; Transferase

Chromosomal Location of Human Ortholog: 8q24.11

Cellular Component: Golgi membrane; Golgi apparatus; endoplasmic reticulum membrane; endoplasmic reticulum; integral to membrane; integral to endoplasmic reticulum membrane

Molecular Function: acetylglucosaminyltransferase activity; transferase activity, transferring glycosyl groups; protein homodimerization activity; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; protein heterodimerization activity; glucuronosyltransferase activity; heparan sulfate N-acetylglucosaminyltransferase activity; metal ion binding; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

Biological Process: axon guidance; ossification; cellular polysaccharide biosynthetic process; glycosaminoglycan metabolic process; olfactory bulb development; protein amino acid glycosylation; pathogenesis; gastrulation; signal transduction; glycosaminoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; heparan sulfate proteoglycan biosynthetic process; carbohydrate metabolic process; mesoderm development; skeletal development; endoderm development

Disease: Chondrosarcoma; Exostoses, Multiple, Type I

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